Canonical Allele Identifier: CA2244609881
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969774979
gnomAD v4: 17-4898123-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898123G>T , CM000679.2:g.4898123G>T GRCh38
NC_000017.10:g.4801418G>T , CM000679.1:g.4801418G>T GRCh37
NC_000017.9:g.4742197G>T NCBI36
NG_008029.2:g.9953C>A
NG_028005.1:g.69784G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*613C>A MANE Select ENSP00000497829.1:n.*613C>A
ENST00000649830.1:c.*731C>A ENSP00000496907.1:n.*731C>A
ENST00000652550.1:n.1821C>A
ENST00000293780.4:c.*613C>A ENSP00000293780.4:n.*613C>A
ENST00000572438.1:n.1781C>A
NM_000080.3:c.*613C>A NP_000071.1:n.*613C>A
NM_000080.4:c.*613C>A MANE Select NP_000071.1:n.*613C>A
XM_017024115.1:c.*613C>A XP_016879604.1:n.*613C>A
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